Skip to main content

An Australian Collaborative Study of Prader-Willi Syndrome Individuals and Their Families

  • Conference paper
Prader-Willi Syndrome

Part of the book series: NATO ASI Series ((ASIH,volume 61))

Abstract

Prader-Willi Syndrome (PWS) is considered to be a rare disorder. Its prevalence in Australia is not known, but the figure of 1 in 10,000 (Holm 1981) is sometimes used. While it is a sporadic disorder, recurrence risks ranging from 0.1% (Cassidy, 1987) to 1–3% (Clarren and Smith, 1977) have been quoted. Family data, including information on siblings, has been published for the American and Canadian populations (Dunn, 1968; Greenswag, 1987). This is a survey of families ascertained because of an individual with PWS — henceforth referred to as PWSF — in Australia.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 119.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 159.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  • Booy R, Pearn JH (1990) Cousin Marriage. Human Genetics Society of Australia Bulletin Abstract. p 18

    Google Scholar 

  • Burke CM, Kousseff BG, Gleeson M, O’Connell BM, Devlin JG (1987) Familial Prader-Willi Syndrome. Arch Int Med 147: 673–675

    Article  CAS  Google Scholar 

  • Butler MG (1990) Prader-Willi Syndrome: Current understanding of cause and diagnosis. Am J Med Genet 35: 319–332

    Article  PubMed  CAS  Google Scholar 

  • Cassidy SB (1987) New data for determining Prader-Willi Syndrome recurrence risk. Am J Med Genet 28: 94

    Article  Google Scholar 

  • Castle I (1987) Australian Bureau of Statistics. Canberra. “In Births Australia 1987” Catalogue No. 3301.0 Commonwealth Government Printer, p 1-8

    Google Scholar 

  • Clarren SK, Smith DW (1977) Prader-Willi Syndrome. Am J Dis Child 131: 798–800

    PubMed  CAS  Google Scholar 

  • Dunn HG (1968) The Prader-Labhart-Willi Syndrome: Review of the literature and report of nine cases. Acta Paediat Scand Supplement 186: 1–38

    Google Scholar 

  • Greenswag LR (1987) Adults with Prader-Willi Syndrome: A survey of 232 cases. Develop Med Child Neurol 29: 145–152

    Article  PubMed  CAS  Google Scholar 

  • Holm VA (1981) The diagnosis of Prader-Willi Syndrome. In: Holm VA, Sulzbacher S, Pipes PL (eds). Prader-Willi Syndrome. University Park Press, Baltimore, p 27

    Google Scholar 

  • Holm VA, Sulzbacher S (1987) Demography of Prader-Willi Syndrome in the 1980s. Ninth Annual Meeting of Prader-Willi Syndrome Association, Houston

    Google Scholar 

  • Ledbetter DH, Greenberg F. Holm VA, Cassidy SB (1987) Conference Report: Second Annual Prader-Willi Syndrome Scientific Conference. Am J Med Genet 28:779–790

    Article  Google Scholar 

  • Lubinsky M, Zellweger R, Greenswag LR, Larson G, Hansmarun I, Ledbetter DH (1987) Familial Prader-Willi Syndrome with normal chromosomes. Am J Med Genet 28: 37–43

    Article  PubMed  CAS  Google Scholar 

  • McDonough PG, Tho SPT (1985) Aetiology and evaluation of repetitive reproductive wastage. In: Shearman RL (ed) Clinical Reproductive Endoerinology. Churchill Livingston p 205-210

    Google Scholar 

  • Smith A, Simpson E (1982) Dermatoglyphic analyses of 24 individuals with the Prader-Willi Syndrome. J Ment Defic Res 26: 91–99

    PubMed  Google Scholar 

  • Smith A, Volpato F. Trent RJ (1990) Correlation of cytogenetic and DNA findings in Prader-Willi Syndrome. In: Fräser WI (ed) Key Issues in Mental Retardation Research. Routledge Press p 57–63

    Google Scholar 

  • Warburton D, Fräser FC (1964) Spontaneous abortion risks in man: Data from reproductive histories collected in a medical genetics unit. Am J Hum Genet 16:1–27

    PubMed  CAS  Google Scholar 

  • Wenstron KD, Gall SA (1988) Incidence, morbidity and mortality, and diagnosis of twin gestations. Clinics in Perinatology 15:1–12

    Google Scholar 

  • Yunis JJ (1976) High resolution of human chromosomes. Science 191: 1268–1270

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 1992 Springer-Verlag Berlin Heidelberg

About this paper

Cite this paper

Smith, A. et al. (1992). An Australian Collaborative Study of Prader-Willi Syndrome Individuals and Their Families. In: Cassidy, S.B. (eds) Prader-Willi Syndrome. NATO ASI Series, vol 61. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-84283-2_13

Download citation

  • DOI: https://doi.org/10.1007/978-3-642-84283-2_13

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-84285-6

  • Online ISBN: 978-3-642-84283-2

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics